ArticleScientific reports2019
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Hidradenitis suppurativa with systemic autoinflammatory features in patients of Moroccan origin: case report and implications for personalized medicine.Frontiers in immunology · 2026Article
- HLA-B5 prevalence in patients with spondyloarthritis and impact on disease phenotype: a multicentric case-control study.Rheumatology (Oxford, England) · 2025Observational
- Oral Lesions as the Primary Manifestations of Behçet's Disease: The Importance of Interdisciplinary Diagnostics-A Case Report.Biomedicines · 2023Article
- Spotlight on pyroptosis: role in pathogenesis and therapeutic potential of ocular diseases.Journal of neuroinflammation · 2022Review
- Association ofReumatologia · 2022Article
- Plasma exosomes derived from patients with intestinal Behçet's syndrome induce intestinal epithelial cell pyroptosis.Clinical rheumatology · 2021Article
- Ankylosing spondylitis: an autoimmune or autoinflammatory disease?Nature reviews. Rheumatology · 2021Review
- A Darwinian View of Behçet's Disease.Rheumatology and immunology research · 2021Review
- Association of Behçet disease with psoriasis and psoriatic arthritis.Scientific reports · 2021Article
- Understanding Behçet's Disease in the Context of Innate Immunity Activation.Frontiers in immunology · 2020Review
- Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.Frontiers in immunology · 2020Article
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Authors and funding
22 authors at 17 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established genetic base. In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. Our strategy did not allow us to establish either number of patients with variants, proportion of individuals accumulating them or relationship with other genetic factors. With the goal to answer these questions, the individual samples were sequenced. Additionally, three functional polymorphisms: NLRP3 p.Gln703Lys, NOD2 p.Arg702Trp and p.Val955Ile were genotyped using TaqMan assays. A total of 98 patients (27.6%) carried at least one rare variant and 13 of them (3.7%) accumulated two or three. Functional regression model analysis suggests epistatic interaction between B51 and MEFV (P = 0.003). A suggestive protective association of the minor allele of NOD2 p.Arg702Trp (P = 0.01) was found in both, B51 positive and negative individuals. Therefore, a high percentage of patients with BD have rare variants in AID genes. Our results suggest that the association of MEFV with BD could be modulated by the HLA molecules; whereas the protective effect of NOD2 p.Arg702Trp would be independent of HLA.
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